present in Gene: INVS
present in Chromosome: 9
Position on Chromosome: 100284342
Alleles of this Variant: C/T
rs121964994 in
INVS gene and
Nephronophthisis
PMID 12872123 2003 Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.